ブルガダ症候群

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Indel	NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn)	SCN5A	Likely pathogenic	3	38622828	38622829	GA	TT	criteria provided, single submitter	ClinGen:CA016545,OMIM:600163.0015
single nucleotide variant	NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val)	SCN5A	Likely pathogenic	3	38639278	38639278	G	A	criteria provided, single submitter	ClinGen:CA015951,UniProtKB:Q14524#VAR_017674,OMIM:600163.0022
single nucleotide variant	NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)	SCN5A	Likely pathogenic	3	38593004	38593004	G	A	criteria provided, multiple submitters, no conflicts	ClinVar:440848,ClinGen:CA018653,UniProtKB:Q14524#VAR_017684,OMIM:600163.0004
Deletion	NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer)	PKP2	Likely pathogenic	12	33003706	33003709	ATTTG	A	criteria provided, single submitter	ClinGen:CA010987
Deletion	NM_001005242.3(PKP2):c.1577del (p.Ala526fs)	PKP2	Likely pathogenic	12	32977076	32977076	AG	A	criteria provided, single submitter	ClinGen:CA011338
single nucleotide variant	NM_001005242.3(PKP2):c.1987C>T (p.Gln663Ter)	PKP2	Likely pathogenic	12	32974316	32974316	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011724
Indel	NM_001005242.3(PKP2):c.951_983delinsAC (p.His318fs)	PKP2	Likely pathogenic	12	33030831	33030863	CCCCCTGCGGCCGCCTGGCCGACAGTCAAGTGC	GT	criteria provided, single submitter	ClinGen:CA012570
single nucleotide variant	NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys)	KCNH2	Likely pathogenic	7	150649790	150649790	T	C	criteria provided, single submitter	ClinGen:CA004393,UniProtKB:Q12809#VAR_074811
single nucleotide variant	NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys)	KCNH2	Likely pathogenic	7	150649592	150649592	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004695,UniProtKB:Q12809#VAR_074821
single nucleotide variant	NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu)	KCNH2	Likely pathogenic	7	150648808	150648808	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004976,UniProtKB:Q12809#VAR_074827